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Protein

Bestrophin-1

Gene

BEST1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.3 Publications

GO - Molecular functioni

GO - Biological processi

  • chloride transport Source: MGI
  • detection of light stimulus involved in visual perception Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • regulation of calcium ion transport Source: Ensembl
  • transepithelial chloride transport Source: HGNC
  • visual perception Source: ProtInc
Complete GO annotation...

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Sensory transduction, Transport, Vision
LigandCalcium, Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167995-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-1
Alternative name(s):
TU15B
Vitelliform macular dystrophy protein 2
Gene namesi
Name:BEST1
Synonyms:VMD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12703. BEST1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Topological domaini47 – 70ExtracellularSequence analysisAdd BLAST24
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Topological domaini92 – 178CytoplasmicSequence analysisAdd BLAST87
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 228ExtracellularSequence analysisAdd BLAST29
Intramembranei229 – 249Sequence analysisAdd BLAST21
Topological domaini250 – 270ExtracellularSequence analysisAdd BLAST21
Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 585CytoplasmicSequence analysisAdd BLAST294

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB
  • chloride channel complex Source: BHF-UCL
  • cytosol Source: HGNC
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Macular dystrophy, vitelliform, 2 (VMD2)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
See also OMIM:153700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582733I → T in VMD2. 1 Publication1
Natural variantiVAR_0008306T → P in VMD2. Corresponds to variant dbSNP:rs289402752 PublicationsEnsembl.1
Natural variantiVAR_0173666T → R in VMD2. Corresponds to variant dbSNP:rs281865204Ensembl.1
Natural variantiVAR_0008319V → A in VMD2. Corresponds to variant dbSNP:rs281865205Ensembl.1
Natural variantiVAR_0008329V → M in VMD2. Corresponds to variant dbSNP:rs28940276Ensembl.1
Natural variantiVAR_00083310A → T in VMD2. Corresponds to variant dbSNP:rs281865206Ensembl.1
Natural variantiVAR_01046810A → V in VMD2. Corresponds to variant dbSNP:rs2818652071 PublicationEnsembl.1
Natural variantiVAR_01736711N → I in VMD2. Corresponds to variant dbSNP:rs2818652081 PublicationEnsembl.1
Natural variantiVAR_01046913R → H in VMD2. Corresponds to variant dbSNP:rs2818652091 PublicationEnsembl.1
Natural variantiVAR_01047016S → F in VMD2. Corresponds to variant dbSNP:rs2818652101 PublicationEnsembl.1
Natural variantiVAR_01047117F → C in VMD2. Corresponds to variant dbSNP:rs2818652111 PublicationEnsembl.1
Natural variantiVAR_00083421L → V in VMD2. Corresponds to variant dbSNP:rs281865212Ensembl.1
Natural variantiVAR_00083524W → C in VMD2. Corresponds to variant dbSNP:rs281865213Ensembl.1
Natural variantiVAR_00083625R → Q in VMD2. Corresponds to variant dbSNP:rs281865215Ensembl.1
Natural variantiVAR_00083725R → W in VMD2. Corresponds to variant dbSNP:rs281865214Ensembl.1
Natural variantiVAR_01736826G → R in VMD2. 1 Publication1
Natural variantiVAR_00083827S → R in VMD2. Corresponds to variant dbSNP:rs281865216Ensembl.1
Natural variantiVAR_01736929Y → H in VMD2. Corresponds to variant dbSNP:rs2818652171 PublicationEnsembl.1
Natural variantiVAR_01737030K → R in VMD2. Corresponds to variant dbSNP:rs281865218Ensembl.1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182883 PublicationsEnsembl.1
Natural variantiVAR_01737247R → H in VMD2. Corresponds to variant dbSNP:rs28940278Ensembl.1
Natural variantiVAR_00083958Q → L in VMD2. Corresponds to variant dbSNP:rs281865529Ensembl.1
Natural variantiVAR_01047273I → N in VMD2. 1 Publication1
Natural variantiVAR_01737380F → L in VMD2. Corresponds to variant dbSNP:rs281865221Ensembl.1
Natural variantiVAR_01047382L → V in VMD2. Corresponds to variant dbSNP:rs2818655302 PublicationsEnsembl.1
Natural variantiVAR_00084185Y → H in VMD2; decreased chloride and bicarbonate conductance. Corresponds to variant dbSNP:rs289402743 PublicationsEnsembl.1
Natural variantiVAR_01737489V → A in VMD2. 1 Publication1
Natural variantiVAR_01737591T → I in VMD2. Corresponds to variant dbSNP:rs281865223Ensembl.1
Natural variantiVAR_01047492R → C in VMD2; loss of cloride and bicarbonate conductance. Corresponds to variant dbSNP:rs2818652242 PublicationsEnsembl.1
Natural variantiVAR_01047592R → H in VMD2. Corresponds to variant dbSNP:rs2818652251 PublicationEnsembl.1
Natural variantiVAR_00084292R → S in VMD2. Corresponds to variant dbSNP:rs281865224Ensembl.1
Natural variantiVAR_00084393W → C in VMD2; no effect on subcellular location in transfected HEK293T cells; loss of cloride and bicarbonate conductance. Corresponds to variant dbSNP:rs289402734 PublicationsEnsembl.1
Natural variantiVAR_01047696Q → H in VMD2. Corresponds to variant dbSNP:rs2818652261 PublicationEnsembl.1
Natural variantiVAR_00084499N → K in VMD2. Corresponds to variant dbSNP:rs281865227Ensembl.1
Natural variantiVAR_000845100L → R in VMD2. Corresponds to variant dbSNP:rs281865228Ensembl.1
Natural variantiVAR_017376101P → T in VMD2. Corresponds to variant dbSNP:rs281865229Ensembl.1
Natural variantiVAR_017377102W → R in VMD2. Corresponds to variant dbSNP:rs2818652301 PublicationEnsembl.1
Natural variantiVAR_000846104D → E in VMD2. Corresponds to variant dbSNP:rs281865232Ensembl.1
Natural variantiVAR_017378104D → H in VMD2. Corresponds to variant dbSNP:rs2818652311 PublicationEnsembl.1
Natural variantiVAR_025732113F → L in VMD2. 1 Publication1
Natural variantiVAR_017379133N → K in VMD2. Corresponds to variant dbSNP:rs281865233Ensembl.1
Natural variantiVAR_010478135G → S in VMD2. Corresponds to variant dbSNP:rs2818652341 PublicationEnsembl.1
Natural variantiVAR_017380140L → R in VMD2. Corresponds to variant dbSNP:rs281865235Ensembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182843 PublicationsEnsembl.1
Natural variantiVAR_010479146A → K in VMD2; sporadic; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs18009951 PublicationEnsembl.1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs2002774762 PublicationsEnsembl.1
Natural variantiVAR_025733201I → T in VMD2. Corresponds to variant dbSNP:rs1995290461 PublicationEnsembl.1
Natural variantiVAR_025734207L → I in VMD2. Corresponds to variant dbSNP:rs746536911 PublicationEnsembl.1
Natural variantiVAR_000848209S → N in VMD2. Corresponds to variant dbSNP:rs281865237Ensembl.1
Natural variantiVAR_000849218R → C in VMD2. Corresponds to variant dbSNP:rs2818652384 PublicationsEnsembl.1
Natural variantiVAR_010481218R → H in VMD2. Corresponds to variant dbSNP:rs2818652391 PublicationEnsembl.1
Natural variantiVAR_000850218R → Q in VMD2. 1
Natural variantiVAR_000851218R → S in VMD2. Corresponds to variant dbSNP:rs2818652381 PublicationEnsembl.1
Natural variantiVAR_025735221C → W in VMD2. Corresponds to variant dbSNP:rs2818652401 PublicationEnsembl.1
Natural variantiVAR_025736222G → V in a family affected by Leber congenital amaurosis/VMD2. Corresponds to variant dbSNP:rs2818652411 PublicationEnsembl.1
Natural variantiVAR_000852224L → M in VMD2. Corresponds to variant dbSNP:rs281865242Ensembl.1
Natural variantiVAR_025737224L → P in VMD2. Corresponds to variant dbSNP:rs2818652431 PublicationEnsembl.1
Natural variantiVAR_000854227Y → N in VMD2. Corresponds to variant dbSNP:rs289414692 PublicationsEnsembl.1
Natural variantiVAR_000855231S → R in VMD2. Corresponds to variant dbSNP:rs281865244Ensembl.1
Natural variantiVAR_010482235V → L in VMD2. Corresponds to variant dbSNP:rs2818652451 PublicationEnsembl.1
Natural variantiVAR_000856235V → M in VMD2. Corresponds to variant dbSNP:rs281865245Ensembl.1
Natural variantiVAR_000857237T → R in VMD2. Corresponds to variant dbSNP:rs2818652461 PublicationEnsembl.1
Natural variantiVAR_025738241T → N in VMD2. Corresponds to variant dbSNP:rs2818652471 PublicationEnsembl.1
Natural variantiVAR_058277242V → M in VMD2; late-onset of visual disturbance. 1 Publication1
Natural variantiVAR_025739243A → T in VMD2. Corresponds to variant dbSNP:rs289405701 PublicationEnsembl.1
Natural variantiVAR_000858243A → V in VMD2. Corresponds to variant dbSNP:rs289405701 PublicationEnsembl.1
Natural variantiVAR_025741276F → L in VMD2. Corresponds to variant dbSNP:rs2818652481 PublicationEnsembl.1
Natural variantiVAR_010483293Q → K in VMD2. Corresponds to variant dbSNP:rs2818652501 PublicationEnsembl.1
Natural variantiVAR_025742294L → V in VMD2. Corresponds to variant dbSNP:rs2818652511 PublicationEnsembl.1
Natural variantiVAR_025743295I → T in VMD2. Corresponds to variant dbSNP:rs2818652531 PublicationEnsembl.1
Natural variantiVAR_000859295Missing in VMD2. 1
Natural variantiVAR_025744296N → H in VMD2. Corresponds to variant dbSNP:rs2818652541 PublicationEnsembl.1
Natural variantiVAR_010484296N → S in VMD2. Corresponds to variant dbSNP:rs2818652551 PublicationEnsembl.1
Natural variantiVAR_000860297P → A in VMD2. Corresponds to variant dbSNP:rs1805143Ensembl.1
Natural variantiVAR_010485297P → S in VMD2. Corresponds to variant dbSNP:rs18051432 PublicationsEnsembl.1
Natural variantiVAR_025745298F → S in VMD2. Corresponds to variant dbSNP:rs2818652571 PublicationEnsembl.1
Natural variantiVAR_058313299G → A in VMD2. 1 Publication1
Natural variantiVAR_000861299G → E in VMD2. Corresponds to variant dbSNP:rs289414681 PublicationEnsembl.1
Natural variantiVAR_010486300E → D in VMD2. Corresponds to variant dbSNP:rs18051443 PublicationsEnsembl.1
Natural variantiVAR_000862300E → K in VMD2. Corresponds to variant dbSNP:rs281865258Ensembl.1
Natural variantiVAR_000863301D → E in VMD2. Corresponds to variant dbSNP:rs2818652611 PublicationEnsembl.1
Natural variantiVAR_000864301D → N in VMD2. Corresponds to variant dbSNP:rs281865259Ensembl.1
Natural variantiVAR_058278302 – 304Missing in VMD2. 1 Publication3
Natural variantiVAR_025746302D → G in VMD2. Corresponds to variant dbSNP:rs2818652631 PublicationEnsembl.1
Natural variantiVAR_025747302D → H in VMD2. Corresponds to variant dbSNP:rs2818652621 PublicationEnsembl.1
Natural variantiVAR_025748302D → V in VMD2. Corresponds to variant dbSNP:rs2818652631 PublicationEnsembl.1
Natural variantiVAR_025749303D → E in VMD2. Corresponds to variant dbSNP:rs2818652641 PublicationEnsembl.1
Natural variantiVAR_000865305F → S in VMD2. Corresponds to variant dbSNP:rs281865265Ensembl.1
Natural variantiVAR_025750306E → D in VMD2. Corresponds to variant dbSNP:rs2818652671 PublicationEnsembl.1
Natural variantiVAR_025751306E → G in VMD2. Corresponds to variant dbSNP:rs2818652661 PublicationEnsembl.1
Natural variantiVAR_025752307T → A in VMD2. Corresponds to variant dbSNP:rs2818652681 PublicationEnsembl.1
Natural variantiVAR_010487307T → I in VMD2. Corresponds to variant dbSNP:rs2818652691 PublicationEnsembl.1
Natural variantiVAR_025753308N → S in VMD2. Corresponds to variant dbSNP:rs2818652701 PublicationEnsembl.1
Natural variantiVAR_000866310I → T in VMD2. Corresponds to variant dbSNP:rs281865271Ensembl.1
Natural variantiVAR_000867311V → G in VMD2. 1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs2818652773 PublicationsEnsembl.1
Retinitis pigmentosa 50 (RP50)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613194
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. Corresponds to variant dbSNP:rs2676066782 PublicationsEnsembl.1
Natural variantiVAR_063170205I → T in RP50; reduced channel activity. Corresponds to variant dbSNP:rs2676066801 PublicationEnsembl.1
Natural variantiVAR_000853227Y → C in RP50. Corresponds to variant dbSNP:rs2676066771 PublicationEnsembl.1
Natural variantiVAR_063171228D → N in RP50; causes protein mislocalization to the cytoplasm. Corresponds to variant dbSNP:rs2676066761 PublicationEnsembl.1
Bestrophinopathy, autosomal recessive (ARB)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
See also OMIM:611809
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07534640L → P in ARB; unknown pathological significance; no effect on subcellular location in transfected HEK293T cells; loss of chloride conductance. 1 Publication1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182883 PublicationsEnsembl.1
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. Corresponds to variant dbSNP:rs2676066782 PublicationsEnsembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182843 PublicationsEnsembl.1
Natural variantiVAR_043493152P → A in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced whole-cell conductance. 2 Publications1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs2002774762 PublicationsEnsembl.1
Natural variantiVAR_075347202R → W in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs7659980481 PublicationEnsembl.1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs2818652773 PublicationsEnsembl.1
Natural variantiVAR_043494317V → M in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182872 PublicationsEnsembl.1
Natural variantiVAR_043495325M → T in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs3683874472 PublicationsEnsembl.1
Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
See also OMIM:193220
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05827486V → M in ADVIRC. Corresponds to variant dbSNP:rs1219182891 PublicationEnsembl.1
Natural variantiVAR_058275236Y → C in ADVIRC. Corresponds to variant dbSNP:rs1219182911 PublicationEnsembl.1
Natural variantiVAR_058276239V → M in ADVIRC. Corresponds to variant dbSNP:rs1219182901 PublicationEnsembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi7439.
MalaCardsiBEST1.
MIMi153700. phenotype.
193220. phenotype.
611809. phenotype.
613194. phenotype.
OpenTargetsiENSG00000167995.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
3086. Autosomal dominant vitreoretinochoroidopathy.
139455. Autosomal recessive bestrophinopathy.
1243. Best vitelliform macular dystrophy.
263347. MRCS syndrome.
791. Retinitis pigmentosa.
PharmGKBiPA162377454.

Polymorphism and mutation databases

BioMutaiBEST1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001431141 – 585Bestrophin-1Add BLAST585

Post-translational modificationi

Phosphorylated by PP2A.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO76090.
PeptideAtlasiO76090.
PRIDEiO76090.

PTM databases

iPTMnetiO76090.
PhosphoSitePlusiO76090.

Expressioni

Tissue specificityi

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Gene expression databases

BgeeiENSG00000167995.
CleanExiHS_BEST1.
ExpressionAtlasiO76090. baseline and differential.
GenevisibleiO76090. HS.

Interactioni

Subunit structurei

Homooligomer (tetramer or pentamer) (PubMed:26200502). May interact with PPP2CB and PPP2R1B (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-11693370,EBI-11693370

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi113279. 1 interactor.
MINTiMINT-239943.
STRINGi9606.ENSP00000399709.

Structurei

3D structure databases

ProteinModelPortaliO76090.
SMRiO76090.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3547. Eukaryota.
ENOG410XS3J. LUCA.
GeneTreeiENSGT00390000002997.
HOVERGENiHBG044928.
InParanoidiO76090.
KOiK13878.
OMAiFPSRRQG.
OrthoDBiEOG091G06XO.
PhylomeDBiO76090.
TreeFamiTF315803.

Family and domain databases

InterProiIPR033041. Best1.
IPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PTHR10736:SF4. PTHR10736:SF4. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O76090-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY
60 70 80 90 100
RLALTEEQQL MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL
110 120 130 140 150
PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR
160 170 180 190 200
FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR
210 220 230 240 250
IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT
260 270 280 290 300
CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
310 320 330 340 350
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA
360 370 380 390 400
SAQFRRASFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD
410 420 430 440 450
HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV
460 470 480 490 500
DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK
510 520 530 540 550
SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN
560 570 580
HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS
Length:585
Mass (Da):67,684
Last modified:November 1, 1998 - v1
Checksum:iD0629AAF65BA1ACD
GO
Isoform 3 (identifier: O76090-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     581-585: DEAHS → SVLHLNQGHC...EDFLGPGEGR

Show »
Length:604
Mass (Da):69,096
Checksum:i4E105E710FC438BE
GO
Isoform 4 (identifier: O76090-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     290-316: Missing.

Show »
Length:498
Mass (Da):57,349
Checksum:iEB111B7121ADC566
GO

Sequence cautioni

The sequence BAH12234 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAH13472 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582733I → T in VMD2. 1 Publication1
Natural variantiVAR_0008306T → P in VMD2. Corresponds to variant dbSNP:rs289402752 PublicationsEnsembl.1
Natural variantiVAR_0173666T → R in VMD2. Corresponds to variant dbSNP:rs281865204Ensembl.1
Natural variantiVAR_0008319V → A in VMD2. Corresponds to variant dbSNP:rs281865205Ensembl.1
Natural variantiVAR_0008329V → M in VMD2. Corresponds to variant dbSNP:rs28940276Ensembl.1
Natural variantiVAR_00083310A → T in VMD2. Corresponds to variant dbSNP:rs281865206Ensembl.1
Natural variantiVAR_01046810A → V in VMD2. Corresponds to variant dbSNP:rs2818652071 PublicationEnsembl.1
Natural variantiVAR_01736711N → I in VMD2. Corresponds to variant dbSNP:rs2818652081 PublicationEnsembl.1
Natural variantiVAR_01046913R → H in VMD2. Corresponds to variant dbSNP:rs2818652091 PublicationEnsembl.1
Natural variantiVAR_01047016S → F in VMD2. Corresponds to variant dbSNP:rs2818652101 PublicationEnsembl.1
Natural variantiVAR_01047117F → C in VMD2. Corresponds to variant dbSNP:rs2818652111 PublicationEnsembl.1
Natural variantiVAR_00083421L → V in VMD2. Corresponds to variant dbSNP:rs281865212Ensembl.1
Natural variantiVAR_00083524W → C in VMD2. Corresponds to variant dbSNP:rs281865213Ensembl.1
Natural variantiVAR_00083625R → Q in VMD2. Corresponds to variant dbSNP:rs281865215Ensembl.1
Natural variantiVAR_00083725R → W in VMD2. Corresponds to variant dbSNP:rs281865214Ensembl.1
Natural variantiVAR_01736826G → R in VMD2. 1 Publication1
Natural variantiVAR_00083827S → R in VMD2. Corresponds to variant dbSNP:rs281865216Ensembl.1
Natural variantiVAR_01736929Y → H in VMD2. Corresponds to variant dbSNP:rs2818652171 PublicationEnsembl.1
Natural variantiVAR_01737030K → R in VMD2. Corresponds to variant dbSNP:rs281865218Ensembl.1
Natural variantiVAR_07534640L → P in ARB; unknown pathological significance; no effect on subcellular location in transfected HEK293T cells; loss of chloride conductance. 1 Publication1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182883 PublicationsEnsembl.1
Natural variantiVAR_01737247R → H in VMD2. Corresponds to variant dbSNP:rs28940278Ensembl.1
Natural variantiVAR_00083958Q → L in VMD2. Corresponds to variant dbSNP:rs281865529Ensembl.1
Natural variantiVAR_00084067L → V. 1
Natural variantiVAR_01047273I → N in VMD2. 1 Publication1
Natural variantiVAR_01737380F → L in VMD2. Corresponds to variant dbSNP:rs281865221Ensembl.1
Natural variantiVAR_01047382L → V in VMD2. Corresponds to variant dbSNP:rs2818655302 PublicationsEnsembl.1
Natural variantiVAR_00084185Y → H in VMD2; decreased chloride and bicarbonate conductance. Corresponds to variant dbSNP:rs289402743 PublicationsEnsembl.1
Natural variantiVAR_05827486V → M in ADVIRC. Corresponds to variant dbSNP:rs1219182891 PublicationEnsembl.1
Natural variantiVAR_01737489V → A in VMD2. 1 Publication1
Natural variantiVAR_01737591T → I in VMD2. Corresponds to variant dbSNP:rs281865223Ensembl.1
Natural variantiVAR_01047492R → C in VMD2; loss of cloride and bicarbonate conductance. Corresponds to variant dbSNP:rs2818652242 PublicationsEnsembl.1
Natural variantiVAR_01047592R → H in VMD2. Corresponds to variant dbSNP:rs2818652251 PublicationEnsembl.1
Natural variantiVAR_00084292R → S in VMD2. Corresponds to variant dbSNP:rs281865224Ensembl.1
Natural variantiVAR_00084393W → C in VMD2; no effect on subcellular location in transfected HEK293T cells; loss of cloride and bicarbonate conductance. Corresponds to variant dbSNP:rs289402734 PublicationsEnsembl.1
Natural variantiVAR_01047696Q → H in VMD2. Corresponds to variant dbSNP:rs2818652261 PublicationEnsembl.1
Natural variantiVAR_00084499N → K in VMD2. Corresponds to variant dbSNP:rs281865227Ensembl.1
Natural variantiVAR_000845100L → R in VMD2. Corresponds to variant dbSNP:rs281865228Ensembl.1
Natural variantiVAR_017376101P → T in VMD2. Corresponds to variant dbSNP:rs281865229Ensembl.1
Natural variantiVAR_017377102W → R in VMD2. Corresponds to variant dbSNP:rs2818652301 PublicationEnsembl.1
Natural variantiVAR_000846104D → E in VMD2. Corresponds to variant dbSNP:rs281865232Ensembl.1
Natural variantiVAR_017378104D → H in VMD2. Corresponds to variant dbSNP:rs2818652311 PublicationEnsembl.1
Natural variantiVAR_025731105R → C in age-related macular degeneration. Corresponds to variant dbSNP:rs2818652731 PublicationEnsembl.1
Natural variantiVAR_025732113F → L in VMD2. 1 Publication1
Natural variantiVAR_010477119E → Q in a sporadic case of concentric annular macular dystrophy. Corresponds to variant dbSNP:rs18051421 PublicationEnsembl.1
Natural variantiVAR_017379133N → K in VMD2. Corresponds to variant dbSNP:rs281865233Ensembl.1
Natural variantiVAR_010478135G → S in VMD2. Corresponds to variant dbSNP:rs2818652341 PublicationEnsembl.1
Natural variantiVAR_017380140L → R in VMD2. Corresponds to variant dbSNP:rs281865235Ensembl.1
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. Corresponds to variant dbSNP:rs2676066782 PublicationsEnsembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182843 PublicationsEnsembl.1
Natural variantiVAR_010479146A → K in VMD2; sporadic; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs18009951 PublicationEnsembl.1
Natural variantiVAR_043493152P → A in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced whole-cell conductance. 2 Publications1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. Corresponds to variant dbSNP:rs2002774762 PublicationsEnsembl.1
Natural variantiVAR_025733201I → T in VMD2. Corresponds to variant dbSNP:rs1995290461 PublicationEnsembl.1
Natural variantiVAR_075347202R → W in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs7659980481 PublicationEnsembl.1
Natural variantiVAR_063170205I → T in RP50; reduced channel activity. Corresponds to variant dbSNP:rs2676066801 PublicationEnsembl.1
Natural variantiVAR_025734207L → I in VMD2. Corresponds to variant dbSNP:rs746536911 PublicationEnsembl.1
Natural variantiVAR_000848209S → N in VMD2. Corresponds to variant dbSNP:rs281865237Ensembl.1
Natural variantiVAR_010480216T → I in a sporadic case of age-related macular degeneration. Corresponds to variant dbSNP:rs2818652751 PublicationEnsembl.1
Natural variantiVAR_000849218R → C in VMD2. Corresponds to variant dbSNP:rs2818652384 PublicationsEnsembl.1
Natural variantiVAR_010481218R → H in VMD2. Corresponds to variant dbSNP:rs2818652391 PublicationEnsembl.1
Natural variantiVAR_000850218R → Q in VMD2. 1
Natural variantiVAR_000851218R → S in VMD2. Corresponds to variant dbSNP:rs2818652381 PublicationEnsembl.1
Natural variantiVAR_025735221C → W in VMD2. Corresponds to variant dbSNP:rs2818652401 PublicationEnsembl.1
Natural variantiVAR_025736222G → V in a family affected by Leber congenital amaurosis/VMD2. Corresponds to variant dbSNP:rs2818652411 PublicationEnsembl.1
Natural variantiVAR_000852224L → M in VMD2. Corresponds to variant dbSNP:rs281865242Ensembl.1
Natural variantiVAR_025737224L → P in VMD2. Corresponds to variant dbSNP:rs2818652431 PublicationEnsembl.1
Natural variantiVAR_000853227Y → C in RP50. Corresponds to variant dbSNP:rs2676066771 PublicationEnsembl.1
Natural variantiVAR_000854227Y → N in VMD2. Corresponds to variant dbSNP:rs289414692 PublicationsEnsembl.1
Natural variantiVAR_063171228D → N in RP50; causes protein mislocalization to the cytoplasm. Corresponds to variant dbSNP:rs2676066761 PublicationEnsembl.1
Natural variantiVAR_000855231S → R in VMD2. Corresponds to variant dbSNP:rs281865244Ensembl.1
Natural variantiVAR_010482235V → L in VMD2. Corresponds to variant dbSNP:rs2818652451 PublicationEnsembl.1
Natural variantiVAR_000856235V → M in VMD2. Corresponds to variant dbSNP:rs281865245Ensembl.1
Natural variantiVAR_058275236Y → C in ADVIRC. Corresponds to variant dbSNP:rs1219182911 PublicationEnsembl.1
Natural variantiVAR_000857237T → R in VMD2. Corresponds to variant dbSNP:rs2818652461 PublicationEnsembl.1
Natural variantiVAR_058276239V → M in ADVIRC. Corresponds to variant dbSNP:rs1219182901 PublicationEnsembl.1
Natural variantiVAR_025738241T → N in VMD2. Corresponds to variant dbSNP:rs2818652471 PublicationEnsembl.1
Natural variantiVAR_058277242V → M in VMD2; late-onset of visual disturbance. 1 Publication1
Natural variantiVAR_025739243A → T in VMD2. Corresponds to variant dbSNP:rs289405701 PublicationEnsembl.1
Natural variantiVAR_000858243A → V in VMD2. Corresponds to variant dbSNP:rs289405701 PublicationEnsembl.1
Natural variantiVAR_025740275V → I in age-related macular degeneration. Corresponds to variant dbSNP:rs2818652761 PublicationEnsembl.1
Natural variantiVAR_025741276F → L in VMD2. Corresponds to variant dbSNP:rs2818652481 PublicationEnsembl.1
Natural variantiVAR_010483293Q → K in VMD2. Corresponds to variant dbSNP:rs2818652501 PublicationEnsembl.1
Natural variantiVAR_025742294L → V in VMD2. Corresponds to variant dbSNP:rs2818652511 PublicationEnsembl.1
Natural variantiVAR_025743295I → T in VMD2. Corresponds to variant dbSNP:rs2818652531 PublicationEnsembl.1
Natural variantiVAR_000859295Missing in VMD2. 1
Natural variantiVAR_025744296N → H in VMD2. Corresponds to variant dbSNP:rs2818652541 PublicationEnsembl.1
Natural variantiVAR_010484296N → S in VMD2. Corresponds to variant dbSNP:rs2818652551 PublicationEnsembl.1
Natural variantiVAR_000860297P → A in VMD2. Corresponds to variant dbSNP:rs1805143Ensembl.1
Natural variantiVAR_010485297P → S in VMD2. Corresponds to variant dbSNP:rs18051432 PublicationsEnsembl.1
Natural variantiVAR_025745298F → S in VMD2. Corresponds to variant dbSNP:rs2818652571 PublicationEnsembl.1
Natural variantiVAR_058313299G → A in VMD2. 1 Publication1
Natural variantiVAR_000861299G → E in VMD2. Corresponds to variant dbSNP:rs289414681 PublicationEnsembl.1
Natural variantiVAR_010486300E → D in VMD2. Corresponds to variant dbSNP:rs18051443 PublicationsEnsembl.1
Natural variantiVAR_000862300E → K in VMD2. Corresponds to variant dbSNP:rs281865258Ensembl.1
Natural variantiVAR_000863301D → E in VMD2. Corresponds to variant dbSNP:rs2818652611 PublicationEnsembl.1
Natural variantiVAR_000864301D → N in VMD2. Corresponds to variant dbSNP:rs281865259Ensembl.1
Natural variantiVAR_058278302 – 304Missing in VMD2. 1 Publication3
Natural variantiVAR_025746302D → G in VMD2. Corresponds to variant dbSNP:rs2818652631 PublicationEnsembl.1
Natural variantiVAR_025747302D → H in VMD2. Corresponds to variant dbSNP:rs2818652621 PublicationEnsembl.1
Natural variantiVAR_025748302D → V in VMD2. Corresponds to variant dbSNP:rs2818652631 PublicationEnsembl.1
Natural variantiVAR_025749303D → E in VMD2. Corresponds to variant dbSNP:rs2818652641 PublicationEnsembl.1
Natural variantiVAR_000865305F → S in VMD2. Corresponds to variant dbSNP:rs281865265Ensembl.1
Natural variantiVAR_025750306E → D in VMD2. Corresponds to variant dbSNP:rs2818652671 PublicationEnsembl.1
Natural variantiVAR_025751306E → G in VMD2. Corresponds to variant dbSNP:rs2818652661 PublicationEnsembl.1
Natural variantiVAR_025752307T → A in VMD2. Corresponds to variant dbSNP:rs2818652681 PublicationEnsembl.1
Natural variantiVAR_010487307T → I in VMD2. Corresponds to variant dbSNP:rs2818652691 PublicationEnsembl.1
Natural variantiVAR_025753308N → S in VMD2. Corresponds to variant dbSNP:rs2818652701 PublicationEnsembl.1
Natural variantiVAR_000866310I → T in VMD2. Corresponds to variant dbSNP:rs281865271Ensembl.1
Natural variantiVAR_000867311V → G in VMD2. 1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs2818652773 PublicationsEnsembl.1
Natural variantiVAR_043494317V → M in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs1219182872 PublicationsEnsembl.1
Natural variantiVAR_043495325M → T in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. Corresponds to variant dbSNP:rs3683874472 PublicationsEnsembl.1
Natural variantiVAR_043496357A → V. Corresponds to variant dbSNP:rs178541381 PublicationEnsembl.1
Natural variantiVAR_010488525E → A. Corresponds to variant dbSNP:rs2005829151 PublicationEnsembl.1
Natural variantiVAR_010489557E → K. Corresponds to variant dbSNP:rs1471921391 PublicationEnsembl.1
Natural variantiVAR_010490561T → A. Corresponds to variant dbSNP:rs2818652831 PublicationEnsembl.1
Natural variantiVAR_010491567L → F in a sporadic case of age-related macular degeneration; unknown pathological significance. Corresponds to variant dbSNP:rs1480607871 PublicationEnsembl.1
Natural variantiVAR_009278578E → V. Corresponds to variant dbSNP:rs1800010Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0089731 – 60Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_008975290 – 316Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_008974581 – 585DEAHS → SVLHLNQGHCIALCPTPASL ALSLPFLHNFLGFHHCQSTL DLRPALAWGIYLATFTGILG KCSGPFLTSPWYHPEDFLGP GEGR in isoform 3. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073500
, AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
AF057169 mRNA. Translation: AAC64343.1.
AF057170 mRNA. Translation: AAC64344.1.
AF073501 mRNA. Translation: AAC33766.1.
AY515704 mRNA. Translation: AAR99654.1.
CH471076 Genomic DNA. Translation: EAW73982.1.
CH471076 Genomic DNA. Translation: EAW73985.1.
BC015220 mRNA. Translation: AAH15220.1.
BC041664 mRNA. Translation: AAH41664.1.
AK289681 mRNA. Translation: BAF82370.1.
AK295998 mRNA. Translation: BAH12234.1. Different initiation.
AK301392 mRNA. Translation: BAH13472.1. Different initiation.
CCDSiCCDS31580.1. [O76090-1]
CCDS44623.1. [O76090-3]
RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
NP_001287715.1. NM_001300786.1. [O76090-4]
NP_001287716.1. NM_001300787.1.
NP_004174.1. NM_004183.3. [O76090-1]
XP_005274272.1. XM_005274215.3.
XP_016873718.1. XM_017018229.1.
UniGeneiHs.524910.
Hs.712676.

Genome annotation databases

EnsembliENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
GeneIDi7439.
KEGGihsa:7439.
UCSCiuc001nsr.3. human. [O76090-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

VMD2 mutation database
Mutations of the BEST1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073500
, AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
AF057169 mRNA. Translation: AAC64343.1.
AF057170 mRNA. Translation: AAC64344.1.
AF073501 mRNA. Translation: AAC33766.1.
AY515704 mRNA. Translation: AAR99654.1.
CH471076 Genomic DNA. Translation: EAW73982.1.
CH471076 Genomic DNA. Translation: EAW73985.1.
BC015220 mRNA. Translation: AAH15220.1.
BC041664 mRNA. Translation: AAH41664.1.
AK289681 mRNA. Translation: BAF82370.1.
AK295998 mRNA. Translation: BAH12234.1. Different initiation.
AK301392 mRNA. Translation: BAH13472.1. Different initiation.
CCDSiCCDS31580.1. [O76090-1]
CCDS44623.1. [O76090-3]
RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
NP_001287715.1. NM_001300786.1. [O76090-4]
NP_001287716.1. NM_001300787.1.
NP_004174.1. NM_004183.3. [O76090-1]
XP_005274272.1. XM_005274215.3.
XP_016873718.1. XM_017018229.1.
UniGeneiHs.524910.
Hs.712676.

3D structure databases

ProteinModelPortaliO76090.
SMRiO76090.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113279. 1 interactor.
MINTiMINT-239943.
STRINGi9606.ENSP00000399709.

Protein family/group databases

TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

PTM databases

iPTMnetiO76090.
PhosphoSitePlusiO76090.

Polymorphism and mutation databases

BioMutaiBEST1.

Proteomic databases

PaxDbiO76090.
PeptideAtlasiO76090.
PRIDEiO76090.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
GeneIDi7439.
KEGGihsa:7439.
UCSCiuc001nsr.3. human. [O76090-1]

Organism-specific databases

CTDi7439.
DisGeNETi7439.
GeneCardsiBEST1.
GeneReviewsiBEST1.
H-InvDBHIX0036211.
HGNCiHGNC:12703. BEST1.
MalaCardsiBEST1.
MIMi153700. phenotype.
193220. phenotype.
607854. gene.
611809. phenotype.
613194. phenotype.
neXtProtiNX_O76090.
OpenTargetsiENSG00000167995.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
3086. Autosomal dominant vitreoretinochoroidopathy.
139455. Autosomal recessive bestr